ClinVar Variation Id:
370173

ClinVar RCV Id:
RCV000409982

dbSNP Id:
rs1057516290

PubMed:
PMID:17027861

HGVS | Genome Assembly |
---|---|

NC_000017.11:g.80108487A>G , CM000679.2:g.80108487A>G | GRCh38 |

NC_000017.10:g.78082286A>G , CM000679.1:g.78082286A>G | GRCh37 |

NC_000017.9:g.75696881A>G | NCBI36 |

NG_009822.1:g.11932A>G , LRG_673:g.11932A>G |

HGVS | Amino-acid change | |
---|---|---|

NM_000152.3:c.1076-2A>G , LRG_673t1:c.1076-2A>G | NP_000143.2:p.= | |

NM_001079803.1:c.1076-2A>G VV | NP_001073271.1:p.= | |

NM_001079804.1:c.1076-2A>G VV | NP_001073272.1:p.= | |

XM_005257193.1:c.1076-2A>G | XP_005257250.1:p.= | |

XM_005257194.3:c.1076-2A>G | XP_005257251.1:p.= | |

NM_000152.4:c.1076-2A>G VV | NP_000143.2:p.= | |

NM_001079803.2:c.1076-2A>G VV | NP_001073271.1:p.= | |

NM_001079804.2:c.1076-2A>G VV | NP_001073272.1:p.= | |

XM_005257193.2:c.1076-2A>G | XP_005257250.1:p.= | |

XM_005257194.4:c.1076-2A>G | XP_005257251.1:p.= | |

NM_000152.5:c.1076-2A>G VV MANE Preferred | NP_000143.2:p.= | |

NM_001079803.3:c.1076-2A>G VV | NP_001073271.1:p.= | |

NM_001079804.3:c.1076-2A>G VV | NP_001073272.1:p.= | |

ENST00000302262.7:c.1076-2A>G | ENSP00000305692.3:p.= | |

ENST00000390015.7:c.1076-2A>G | ENSP00000374665.3:p.= |